What’s Your Diagnosis?

Abstract

A 14-month-old girl presented for further evaluation for glaucoma with a history of esotropia and concern for corneal clouding first seen by her mother at 9 months of age without associated epiphora or photophobia. At 11 months of age, an examination under anesthesia recorded the presence of suspected epithelial edema with bilateral borderline elevated intraocular pressures. After removal of the temporal corneal epithelium, strikingly clear visualization of the filtration angle was present. Bilateral goniotomies were then performed. One month postoperatively, the examination under anesthesia was repeated and moderately improved intraocular pressures were measured and persistent epithelial opacification was present. She had just begun standing and her pediatrician had noted mild global developmental delay. Her parents are both of Ashkenazim ancestry. On examination, she possessed mild coarse facial features and generalized hypotonia without hepatosplenomegaly or skin abnormalities. She fixed and followed well without nystagmus. Her corneas were diffusely cloudy and thickened bilaterally (Figure). Corneal diameter measurements, intraocular pressures, gonioscopic findings, and lenses were normal. The fundi were normal, without evidence of retinal vessel attenuation or optic atrophy. Conjunctival and corneal epithelial biopsies were performed. Electron microscopic analysis revealed lysosomal membrane-bound intracytoplasmic lamellar inclusion bodies that confirmed the suspected diagnosis.